Canonical Allele Identifier: CA521906413

Gene: CRYBG2

Linked Data

• dbSNP Id: rs1412377244
• gnomAD v2: 1-26650521-C-T
• gnomAD v3: 1-26324030-C-T
• gnomAD v4: 1-26324030-C-T
• MyVariant Identifiers: chr1:g.26650521C>T (hg19) ; chr1:g.26324030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324030C>T , CM000663.2:g.26324030C>T	GRCh38
NC_000001.10:g.26650521C>T , CM000663.1:g.26650521C>T	GRCh37
NC_000001.9:g.26523108C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308182.10:c.4737+122G>A MANE Select	ENSP00000310435.6:n.4737+122G>A
ENST00000475866.3:c.5709+122G>A	ENSP00000428746.2:n.5709+122G>A
ENST00000308182.9:c.4737+122G>A	ENSP00000310435.6:n.4737+122G>A
ENST00000374208.1:n.215+122G>A
ENST00000374211.5:n.351+122G>A
ENST00000527815.5:c.2115+122G>A	ENSP00000433931.1:n.2115+122G>A
NM_001039775.3:c.4737+122G>A	NP_001034864.2:n.4737+122G>A
XM_005245918.2:c.4737+122G>A	XP_005245975.1:n.4737+122G>A
XM_011541672.1:c.4701+122G>A	XP_011539974.1:n.4701+122G>A
XM_011541673.1:c.4908+122G>A	XP_011539975.1:n.4908+122G>A
XR_946681.1:n.5201+122G>A
XM_011541673.2:c.4908+122G>A	XP_011539975.1:n.4908+122G>A
XR_001737260.1:n.4760+122G>A
NM_001039775.4:c.4737+122G>A MANE Select	NP_001034864.2:n.4737+122G>A